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Gene | CSF3R |
Variant | Q741* |
Impact List | nonsense |
Protein Effect | gain of function |
Gene Variant Descriptions | CSF3R Q741* results in a premature truncation of the Csf3r protein at amino acid 741 of 836 (UniProt.org). Q741* results in increased Csf3r cell surface expression, impaired receptor internalization, G-CSF hypersensitivity, elevated Stat5 activation, and is transforming in cell culture (PMID: 23656643, PMID: 28439110). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R Q741* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466647G>A |
cDNA | c.2221C>T |
Protein | p.Q741* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_172313.2 | chr1:g.36466647G>A | c.2221C>T | p.Q741* | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36466647G>A | c.2221C>T | p.Q741* | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36466647G>A | c.2221C>T | p.Q741* | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466647G>A | c.2221C>T | p.Q741* | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466647G>A | c.2221C>T | p.Q741* | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36466647G>A | c.2221C>T | p.Q741* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CSF3R Q741* | hematologic cancer | predicted - sensitive | AZD1480 | Preclinical - Cell culture | Actionable | In a preclinical study, transformed hematologic cells expressing CSF3R Q741* were sensitive to treatment with AZD1480 in culture, demonstrating decreased cell survival (PMID: 28031554). | 28031554 |
CSF3R Q741* | hematologic cancer | predicted - resistant | Dasatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed hematologic cells expressing CSF3R Q741* demonstrated resistance to treatment with Sprycel (dasatinib) in culture (PMID: 28031554). | 28031554 |
CSF3R Q741* | Advanced Solid Tumor | sensitive | Ibrutinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing CSF3R Q741* were sensitive to treatment with Imbruvica (ibrutinib) in culture, demonstrating a reduced cell proliferation (PMID: 29977015). | 29977015 |
CSF3R Q741* | hematologic cancer | predicted - sensitive | Ruxolitinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed hematologic cells expressing CSF3R Q741* were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell survival (PMID: 28031554). | 28031554 |
CSF3R Q741* | Advanced Solid Tumor | sensitive | Ruxolitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing CSF3R Q741* were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased total colony formation (PMID: 29977015). | 29977015 |
CSF3R Q741* | Advanced Solid Tumor | sensitive | Ibrutinib + Ruxolitinib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Imbruvica (ibrutinib) and Jakafi (ruxolitinib) resulted in a synergistic effect in cells expressing CSF3R Q741*, demonstrating greater decreased cell viability as compared to either agent alone (PMID: 29977015). | 29977015 |